Linked Data
ClinVar Variation Id:
204048
dbSNP Id:
rs180177260
ExAC:
2:241814587 G / T
gnomAD v2:
2-241814587-G-T
gnomAD v3:
2-240875170-G-T
gnomAD v4:
2-240875170-G-T
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875170G>T , CM000664.2:g.240875170G>T | GRCh38 |
| NC_000002.11:g.241814587G>T , CM000664.1:g.241814587G>T | GRCh37 |
| NC_000002.10:g.241463260G>T | NCBI36 |
| NG_008005.1:g.11426G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.742G>T MANE Select | ENSP00000302620.3:p.Ala248Ser | |
| ENST00000307503.3:c.742G>T | ENSP00000302620.3:p.Ala248Ser | |
| ENST00000476698.1:n.394G>T | ||
| NM_000030.2:c.742G>T | NP_000021.1:p.Ala248Ser | |
| NM_000030.3:c.742G>T MANE Select | NP_000021.1:p.Ala248Ser |